Variant #0000148858 (NC_000009.11:g.101594103G>A, GALNT12(NM_024642.4):c.781G>A)

Individual ID 00090584
Chromosome 9
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.101594103G>A
DNA change (hg38) g.98831821G>A
Published as -
ISCN -
DB-ID GALNT12_000004 See all 9 reported entries
Variant remarks -
Reference Thibodeau lab (Mayo Clinic)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01197 View details
Owner Melissa DeRycke
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 ?/. - c.781G>A r.(?) p.(Asp261Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090729 DNA SEQ-NG-I blood - GALNT12 1 Melissa DeRycke